Familial hypertriglyceridemia (FHTG) is a rare inherited lipid disorder that may present with severe phenotypes when caused by compound heterozygous or biallelic APOA5 variants. We report a male child Show more
Familial hypertriglyceridemia (FHTG) is a rare inherited lipid disorder that may present with severe phenotypes when caused by compound heterozygous or biallelic APOA5 variants. We report a male child diagnosed at 2.5 years of age with severe hypertriglyceridemia, who exhibited serum triglyceride levels persistently above 10 mmol/L (≈ 885 mg/dl) despite adherence to a low-fat diet and pharmacotherapy including fibrates, omega-3 fatty acids, and statins. Representative triglycerides at presentation were 11.6 mmol/L (≈ 1029 mg/dl). During follow up, the patient experienced an acute abdominal pain episode with triglycerides nearing 20 mmol/L (≈ 1770 mg/dL), managed conservatively under suspicion of pancreatitisOral glucose tolerance testing showed a high-normal insulin response (peak 84.5 mIU/L, below the insulin-resistance threshold of 100-150 mIU/L), which prompted addition of metformin. Over a decade, despite normal growth and clinical well-being, biochemical control remained suboptimal. This case illustrates the clinical utility of early genetic testing in pediatric dyslipidemias and highlights limitations of traditional treatments in monogenic severe FHTG. Emerging therapies, including antisense oligonucleotides and ANGPTL3 inhibitors, may hold future promise. Show less
Thrombosis of ductus arteriosus aneurysm (DAA) is a well-known complication of DAA that can lead to vascular obstruction or thromboembolic events. A full-term male newborn presented with isolated righ Show more
Thrombosis of ductus arteriosus aneurysm (DAA) is a well-known complication of DAA that can lead to vascular obstruction or thromboembolic events. A full-term male newborn presented with isolated right ventricular hypoplasia (IRVH). Follow-up echocardiography at 19 days of life revealed a pedunculated mass, suggesting a thrombus partially obstructing the left pulmonary artery (LPA). The patient remained clinically stable but was admitted to the neonatal intensive care unit for close monitoring. CT and MRI confirmed DAA thrombosis involving LPA. Due to a lack of resolution with conservative treatment, the patient underwent a thrombectomy and resection of the ductus arteriosus (DA). The postoperative course was uneventful, and the follow-up echocardiography showed normalisation of the right ventricular cavity and no residual thrombus. This case highlights the importance of early detection and investigation in neonates with echocardiographic findings of intrauterine ductus arteriosus closure, stenosis, or DA closure in the first 12 h of life to prevent life-threatening complications. Show less